1.
Clin Genet
; 93(2): 356-359, 2018 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28456137
RESUMO
Auriculocondylar syndrome and isolated question mark ear result from dysregulation of the endothelin 1-endothelin receptor type A signaling pathway. Animal models have highlighted the role of the transcription factor MEF2C as an effector of this pathway. We report heterozygous MEF2C loss-of-function as a possible cause of question mark ear associated with intellectual deficiency.